Molecular cloning of LILRC1 and LILRC2 in the mouse and the rat, two novel immunoglobulin-like receptors encoded by the leukocyte receptor gene complex

FH-Sydney 1 and 2: Two novel frameshift

FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation

✍ J. A. Cavanaugh; S. Easteal; L. A. Simons; D. W. Thomas; S. W. Serjeantson 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

## Communicated by H. H. Dahl We report two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene that lead to familial hypercholesterolemia in separate lineages. The lesions, FH-Sydney 1 and FH-Sydney 2, were detected by a modified heteroduplex analysis of exon-specif